Canonical Allele Identifier: CA3863431

Gene: HCRTR2

Linked Data

• dbSNP Id: rs555073372
• ExAC: 6:55113438 T / C
• gnomAD v2: 6-55113438-T-C
• gnomAD v3: 6-55248640-T-C
• gnomAD v4: 6-55248640-T-C
• MyVariant Identifiers: chr6:g.55113438T>C (hg19) ; chr6:g.55248640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55248640T>C , CM000668.2:g.55248640T>C	GRCh38
NC_000006.11:g.55113438T>C , CM000668.1:g.55113438T>C	GRCh37
NC_000006.10:g.55221397T>C	NCBI36
NG_012447.1:g.79368T>C
NG_012447.2:g.147181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370862.4:c.225T>C MANE Select	ENSP00000359899.3:p.Val75=
ENST00000370862.3:c.225T>C	ENSP00000359899.3:p.Val75=
ENST00000615358.4:c.225T>C	ENSP00000477548.1:p.Val75=
NM_001526.3:c.225T>C	NP_001517.2:p.Val75=
XM_011514542.1:c.30T>C	XP_011512844.1:p.Val10=
NM_001526.4:c.225T>C	NP_001517.2:p.Val75=
XM_017010798.1:c.225T>C	XP_016866287.1:p.Val75=
NM_001384272.1:c.225T>C MANE Select	NP_001371201.1:p.Val75=
NM_001526.5:c.225T>C	NP_001517.2:p.Val75=